• Gene id: 79085

Gene Summary

• Gene Symbol: SLC25A23   Gene   UCSC   Ensembl
• Aliases: APC2, MCSC2, SCaMC-3
• Gene name: solute carrier family 25 member 23
• Alternate names: calcium-binding mitochondrial carrier protein SCaMC-3, mitochondrial ATP-Mg/Pi carrier protein 2, mitochondrial Ca(2+)-dependent solute carrier protein 2, mitochondrial Ca2+-dependent solute carrier protein 2, short calcium-binding mitochondrial carrier 3, sma,
• Gene location: 19p13.3 (6459791: 6436080)     Exons: 14     NC_000019.10
• OMIM: 607211

Protein Summary

• Protein general information: Q9BV35  
  • Name: Calcium binding mitochondrial carrier protein SCaMC 3 (Mitochondrial ATP Mg/Pi carrier protein 2) (Mitochondrial Ca(2+) dependent solute carrier protein 2) (Small calcium binding mitochondrial carrier protein 3) (Solute carrier family 25 member 23)
  • Length: 468  
  • Mass: 52378
  • Tissue specificity: Present in various cell lines (at protein level). Expressed at low levels in most tissues examined, with highest expression in brain, skeletal muscle and pancreas. {ECO
• Sequence:

  MRGSPGDAERRQRWGRLFEELDSNKDGRVDVHELRQGLARLGGGNPDPGAQQGISSEGDADPDGGLDLEEFSRYL
  QEREQRLLLMFHSLDRNQDGHIDVSEIQQSFRALGISISLEQAEKILHSMDRDGTMTIDWQEWRDHFLLHSLENV
  EDVLYFWKHSTVLDIGECLTVPDEFSKQEKLTGMWWKQLVAGAVAGAVSRTGTAPLDRLKVFMQVHASKTNRLNI
  LGGLRSMVLEGGIRSLWRGNGINVLKIAPESAIKFMAYEQIKRAILGQQETLHVQERFVAGSLAGATAQTIIYPM
  EVLKTRLTLRRTGQYKGLLDCARRILEREGPRAFYRGYLPNVLGIIPYAGIDLAVYETLKNWWLQQYSHDSADPG
  ILVLLACGTISSTCGQIASYPLALVRTRMQAQASIEGGPQLSMLGLLRHILSQEGMRGLYRGIAPNFMKVIPAVS
  ISYVVYENMKQALGVTSR

• Structural information:
  • Protein Domains: (9..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (77..11-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (113..14-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU004-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR002067  IPR018108   IPR023395  
  • Prosite: PS00018 PS50222 PS50920
  • CDD: cd00051
  • STRING: ENSP00000301454
• Other Databases: GeneCards:  SLC25A23  Malacards:  SLC25A23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005347	ATP transmembrane transporter activity	IBA	molecular function
GO:0006851	mitochondrial calcium ion transmembrane transport	IMP	biological process
GO:0036444	calcium import into the mitochondrion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0051282	regulation of sequestering of calcium ion	IEA	biological process
GO:0002082	regulation of oxidative phosphorylation	IEA	biological process
GO:0097274	urea homeostasis	IEA	biological process
GO:0051503	adenine nucleotide transport	IEA	biological process
GO:0043457	regulation of cellular respiration	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0015867	ATP transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:1900069	regulation of cellular hyperosmotic salinity response	IMP	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq